Canonical Allele Identifier: CA658655922

Gene: APC

Linked Data

• ClinVar Variation Id: 482388
• ClinVar RCV Id: RCV000574972
• dbSNP Id: rs1554080672
• MyVariant Identifiers: chr5:g.112157609_112157611del (hg19) ; chr5:g.112821912_112821914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821912_112821914del , CM000667.2:g.112821912_112821914del	GRCh38
NC_000005.9:g.112157609_112157611del , CM000667.1:g.112157609_112157611del	GRCh37
NC_000005.8:g.112185508_112185510del	NCBI36
NG_008481.4:g.134392_134394del , LRG_130:g.134392_134394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1329_1331del	ENSP00000484935.2:p.Glu443_His444delinsAsp
ENST00000504915.3:c.1329_1331del	ENSP00000473355.2:p.Glu443_His444delinsAsp
ENST00000505084.2:n.1385_1387del
ENST00000505350.2:c.*1335_*1337del	ENSP00000481752.1:n.*1335_*1337del
ENST00000507379.6:c.1275_1277del	ENSP00000423224.2:p.Glu425_His426delinsAsp
ENST00000509732.6:c.1329_1331del	ENSP00000426541.2:p.Glu443_His444delinsAsp
ENST00000512211.7:c.1329_1331del	ENSP00000423828.3:p.Glu443_His444delinsAsp
ENST00000257430.9:c.1329_1331del MANE Select	ENSP00000257430.4:p.Glu443_His444delinsAsp
ENST00000257430.8:c.1329_1331del	ENSP00000257430.4:p.Glu443_His444delinsAsp
ENST00000502371.2:c.17_19del
ENST00000507379.5:c.1275_1277del	ENSP00000423224.1:p.Glu425_His426delinsAsp
ENST00000508376.6:c.1329_1331del	ENSP00000427089.2:p.Glu443_His444delinsAsp
ENST00000508624.5:c.*651_*653del	ENSP00000424265.1:n.*651_*653del
ENST00000512211.6:c.1329_1331del	ENSP00000423828.2:p.Glu443_His444delinsAsp
NM_000038.5:c.1329_1331del	NP_000029.2:p.Glu443_His444delinsAsp
NM_001127510.2:c.1329_1331del	NP_001120982.1:p.Glu443_His444delinsAsp
NM_001127511.2:c.1275_1277del	NP_001120983.2:p.Glu425_His426delinsAsp
NM_001354895.1:c.1329_1331del	NP_001341824.1:p.Glu443_His444delinsAsp
NM_001354896.1:c.1329_1331del	NP_001341825.1:p.Glu443_His444delinsAsp
NM_001354897.1:c.1359_1361del	NP_001341826.1:p.Glu453_His454delinsAsp
NM_001354898.1:c.1254_1256del	NP_001341827.1:p.Glu418_His419delinsAsp
NM_001354899.1:c.1245_1247del	NP_001341828.1:p.Glu415_His416delinsAsp
NM_001354900.1:c.1152_1154del	NP_001341829.1:p.Glu384_His385delinsAsp
NM_001354901.1:c.1152_1154del	NP_001341830.1:p.Glu384_His385delinsAsp
NM_001354902.1:c.1056_1058del	NP_001341831.1:p.Glu352_His353delinsAsp
NM_001354903.1:c.1026_1028del	NP_001341832.1:p.Glu342_His343delinsAsp
NM_001354904.1:c.951_953del	NP_001341833.1:p.Glu317_His318delinsAsp
NM_001354905.1:c.849_851del	NP_001341834.1:p.Glu283_His284delinsAsp
NM_001354906.1:c.480_482del	NP_001341835.1:p.Glu160_His161delinsAsp
NM_000038.6:c.1329_1331del MANE Select	NP_000029.2:p.Glu443_His444delinsAsp
NM_001127510.3:c.1329_1331del	NP_001120982.1:p.Glu443_His444delinsAsp
NM_001127511.3:c.1275_1277del	NP_001120983.2:p.Glu425_His426delinsAsp
NM_001354895.2:c.1329_1331del	NP_001341824.1:p.Glu443_His444delinsAsp
NM_001354896.2:c.1329_1331del	NP_001341825.1:p.Glu443_His444delinsAsp
NM_001354897.2:c.1359_1361del	NP_001341826.1:p.Glu453_His454delinsAsp
NM_001354898.2:c.1254_1256del	NP_001341827.1:p.Glu418_His419delinsAsp
NM_001354899.2:c.1245_1247del	NP_001341828.1:p.Glu415_His416delinsAsp
NM_001354900.2:c.1152_1154del	NP_001341829.1:p.Glu384_His385delinsAsp
NM_001354901.2:c.1152_1154del	NP_001341830.1:p.Glu384_His385delinsAsp
NM_001354902.2:c.1056_1058del	NP_001341831.1:p.Glu352_His353delinsAsp
NM_001354903.2:c.1026_1028del	NP_001341832.1:p.Glu342_His343delinsAsp
NM_001354904.2:c.951_953del	NP_001341833.1:p.Glu317_His318delinsAsp
NM_001354905.2:c.849_851del	NP_001341834.1:p.Glu283_His284delinsAsp
NM_001354906.2:c.480_482del	NP_001341835.1:p.Glu160_His161delinsAsp